A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

Karen J. Low, M. James, P. M. Sharples, M. Eaton, S. Jenkinson, D. D.D. Study, S. F. Smithson*

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

9 Citations (Scopus)
Original languageEnglish
Pages (from-to)1-3
Number of pages3
Publication statusPublished - Mar 2018

Bibliographical note

Funding Information:
We thank the patient and his family for their helpful participation in this work and all colleagues who have contributed to the data presented here. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Welcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Welcome Trust or the Department of Health. The study has UK Research Ethics Committee approval ( 10/H0305/83 , granted by the Cambridge South REC , and GEN/284/12 granted by the Republic of Ireland REC ). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network.

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